Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[DNA diagnosis of Leber's hereditary optic neuropathy].

Nippon Ganka Gakkai zasshi - 1 Jul 1990

Mashima Y, Oguchi Y, Uemura Y, Kudoh J, Sakai K, Shimizu N

Abstract excerpt

The point mutation at nt11778 in mitochondrial DNA is highly associated with Leber's hereditary optic neuropathy and eliminates a restriction enzyme SfaNI site in American blacks and Caucasians. DNA diagnosis was applied to a male Japanese patient with this disorder and his mother as a carrier. The mitochondrial DNA fragments (255bp) including this mutation were amplified by polymerase chain reaction. SfaNI...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA, Mitochondrial
Share to DNA Mutational Analysis
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Optic Atrophies, Hereditary

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 2220506

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[DNA diagnosis of Leber's hereditary optic neuropathy].PMID 2220506Read ↗

A mutation of mitochondrial DNA in Japanese families with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

[Molecular genetic analysis for Leber's hereditary optic neuropathy (LHON)].Semantic proximity Read ↗

[Mutation analysis in a family of Leber hereditary optic neuropathy].Semantic proximity Read ↗

Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy.Semantic proximity Read ↗

[Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber's hereditary optic neuropathy].Semantic proximity Read ↗

[Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients].Semantic proximity Read ↗

[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].Semantic proximity Read ↗

[Study on five point mutations in mitochondrial DNA in patients with Leber's hereditary optic neuropathy].Semantic proximity Read ↗

[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics].Semantic proximity Read ↗

[Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area].Semantic proximity Read ↗

[Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy].Semantic proximity Read ↗

[Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.